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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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第二阶段:对涉及疾病的误解变体的计算分析

David Ros-Pardo1, Paulino Gómez-Puertas1, Íñigo Marcos-Alcalde1

  • 1Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain.

International journal of molecular sciences
|January 27, 2024
PubMed
概括

STAG2蛋白质变体影响基因调节和基因组稳定性,可能导致发育障碍和癌症. 分子建模和模拟揭示了这些STAG2变异如何影响原子层次的蛋白质相互作用.

关键词:
康尼莉亚·德朗格综合征 (Cornelia de Lange综合征) 是一种尼普布尔 (NIPBL) 是一种在RAD21中使用RAD21.第二个阶段:第二个阶段分子建模分子建模变种合理化变种的合理化

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